UMass Med professors are sleuths of the genome

WORCESTER Two professors at the University of Massachusetts Medical School are playing a role in a global effort to unlock the mysteries of the human genome, which is the complete set of genetic instructions for humans.

Medical school professors Job Dekker and Zhiping Weng participated in an international consortium of scientists from 32 institutions that made headlines this month with its findings. The scientists involved in the Encyclopedia of DNA Elements project, or ENCODE, announced that parts of the genome often dismissed in the past as junk DNA actually play an important role in regulating what genes do.

Through the projects research, scientists have gained an understanding of 80.4 percent of the human genome, the UMass Medical School professors said.

That is a tremendous improvement in our understanding of the genome, said Mr. Dekker, who holds a doctorate and is professor of biochemistry and molecular pharmacology and co-director of the schools Systems Biology program.

Researchers involved in the project used a range of experimental approaches to understand what pieces of DNA are regulating genes. The research labs of Mr. Dekker and Ms. Weng, who holds a doctorate and is the director of the medical schools program in bioinformatics and integrative biology, worked on separate projects that contributed to the effort.

The findings of the international project appeared in 30 papers published in the journals Nature, Genome Research and Genome Biology. Mr. Dekker was the lead author of one of the Nature papers. The results of Ms. Wengs efforts were published in Genome Research. The consortiums work received funding from the National Human Genome Research Institute, part of the National Institutes of Health.

The professors touted the data produced by ENCODE which built upon the Human Genome Project completed in 2003 as the basis for further study in the genetic causes of human disease and a potential boon for pharmaceutical and other medical research.

For the past decade, Mr. Dekker has helped develop methods to create three-dimensional models of folded chromosomes. Those models can be used to determine which parts of the genome touch each other, according to the medical school.

Scientists have believed for a number of years that a regulatory element could control a gene by physically interacting with that gene, Mr. Dekker said. His goal is to measure the three-dimensional structure to see which regulatory elements physically touch what genes, he said.

We have gone from this view of the genome where we have here and there a gene and then large sections of unknown of territory, Mr. Dekker said. We now have a much richer picture of the genome, where we can see genes, and we can set lots and lots of these regulatory elements.

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UMass Med professors are sleuths of the genome